Kmt2d - lysine (K)-specific methyltransferase 2D Gene

Also Known as ALR; Mll2; Mll4; KMT2B; C430014K11Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 381022

Summary

Enables DNA-binding transcription activator activity, RNA polymerase II-specific. Involved in heterochromatin assembly; histone H3-K4 methylation; and oocyte growth. Acts upstream of or within in utero embryonic development and regulation of gene expression. Predicted to be located in nucleoplasm. Predicted to be part of MLL3/4 complex. Is expressed in several structures, including central nervous system; cranium; heart; integumental system; and sensory organ. Used to study Kabuki syndrome. Human ortholog(s) of this gene implicated in Kabuki syndrome and esophagus squamous cell carcinoma. Orthologous to human KMT2D (lysine methyltransferase 2D). [provided by Alliance of Genome Resources, Apr 2022]

Kmt2d Products (1)

mRNA Protein Name
NM_001033276.3 NP_001028448.3 histone-lysine N-methyltransferase 2D

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
26691508 MGI
enables histone H3K4 methyltransferase activity IMP
IMP: Inferred from mutant phenotype
20808952 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
17021013 MGI
Biological Process GO Annotation Evidence References Source
involved in heterochromatin formation IMP
IMP: Inferred from mutant phenotype
20808952 MGI
acts upstream of or within in utero embryonic development IMP
IMP: Inferred from mutant phenotype
16540515 MGI
involved in oocyte growth IMP
IMP: Inferred from mutant phenotype
20808952 MGI
involved in oogenesis IMP
IMP: Inferred from mutant phenotype
20808952 MGI
acts upstream of or within regulation of gene expression IMP
IMP: Inferred from mutant phenotype
17021013 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

histone-lysine N-methyltransferase 2D

  • ALL1-related protein

  • histone-lysine N-methyltransferase MLL2

  • lysine N-methyltransferase 2B

  • lysine N-methyltransferase 2D

  • myeloid/lymphoid or mixed-lineage leukemia 2

  • myeloid/lymphoid or mixed-lineage leukemia protein 2

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS07404 KMT2D Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17767 Kmt2d Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24234 Kmt2d Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Kmt2d NCBI NCBI:8085